720861000: B4GALT7-gerelateerd spondylodysplastisch Ehlers-Danlos-syndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome progeroid type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type (disorder)	Is a	Dysplasia with increased bone density (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type (disorder)	Is a	Ehlers-Danlos syndrome (disorder)	false	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type (disorder)	Is a	Premature aging syndrome (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	4
Ehlers-Danlos syndrome progeroid type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Ehlers-Danlos syndrome progeroid type (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	4
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome progeroid type (disorder)	Interprets	Bone density scan	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type (disorder)	Is a	Spondylodysplastic Ehlers-Danlos syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3322329017	Ehlers-Danlos syndrome progeroid type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322330010	Ehlers-Danlos syndrome progeroid type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322331014	Defective biosynthesis of proteodermatan sulfate	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322332019	Defective biosynthesis of proteodermatan sulphate	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322333012	Galactosyltransferase I deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322334018	Xylosylprotein 4-beta-galactosyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4575313016	B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome)	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14062491000146114	B4GALT7-gerelateerd spondylodysplastisch Ehlers-Danlos-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14062501000146116	B4GALT7-gerelateerd spondylodysplastisch Ehlers-Danlos-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14062511000146119	B4GALT7-gerelateerd spondylodysplastisch EDS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14062521000146112	spEDS-B4GALT7	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14064601000146110	progeroïde Ehlers-Danlos-syndroom type 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3322335017	A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core